R17S (p.Arg17Ser) variant of TSHR (Thyrotropin receptor)
R17S (p.Arg17Ser) in TSHR (Thyrotropin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R17S (p.Arg17Ser) variant details
- p.Arg17Ser
- gnomAD 14-80955731-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.13
- CADD 7.21
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available